3q29 microdeletion syndromeis a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lipor cleft palate, and a few have been reported to have heart defects. As children with this condition get older, they may develop behavioral difficulties such as autism, and they may have symptoms of mental illness.[1] The severity of symptoms can vary, and some people with 3q29 microdeletion syndrome may have very mild symptoms or may not even know they are affected.[2]

3q29 microdeletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 3, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 3q29 microdeletion syndrome are de novo, which means the deletion was not passed down from either parent.[3] Some cases may be inherited from a parent who is only mildly affected by the condition.

Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing.[4] Treatment is based on signs and symptoms of each person and may include surgeries to repair any physical abnormalities, speech therapy, behavior therapy and special education.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have
all the symptoms listed. This information comes from a database called the Human Phenotype Ontology
(HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO
is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Patient Registry

The 3q29 Deletion Registry supports research for 3q29 microdeletion syndrome by collecting information about patients with this diagnosis. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 3q29 microdeletion syndrome.

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss 3q29 microdeletion syndrome. Click on the link to view a sample search on this topic.

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